ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829190154
Gene: GBF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2475860
ClinVar RCV Id:
RCV004268905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001378858.1:p.Glu519Gln
CA5663295
NM_001391929.1:c.1555G>C